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Clinical Neuropathology, Volume 45 (2026) - May/June (86 - 97)

From genes to neuropathology: Integrative perspectives on the spectrum of spinocerebellar ataxias
Jeroen J. de Vries¹, Maria João da Costa Caiado²^,³, Wilfred F.A. den Dunnen²
¹ Expertise Center for Movement Disorders, Department of Neurology, ² Department of Pathology and Medical Biology, Division of Pathology, University Medical Center Groningen, and ³ Department of Molecular Pharmacology, University of Groningen, Groningen, The Netherlands

DOI 10.5414/NP301726

Abstract

This review describes the clinically and genetically heterogenous group of 52 Spinocerebellar ataxias (SCAs). After a brief description of the epidemiology and clinical spectrum, this review highlights the functional neuroanatomy, the need for sufficient sampling based on this knowledge, and showcases examples of neuropathology. In addition, a comprehensive overview of the pathogenesis of the different forms of spinocerebellar ataxias (SCAs) is given.

Author Details

Authors

Departments

¹ Expertise Center for Movement Disorders, Department of Neurology,
² Department of Pathology and Medical Biology, Division of Pathology, University Medical Center Groningen, and
³ Department of Molecular Pharmacology, University of Groningen, Groningen, The Netherlands

Address

Wilfred F.A. den Dunnen, MD, PhD,
Associate Professor in Neuropathology
Department Pathology and Medical Biology
University Medical Center Groningen
PO Box 30.001
9700 RB Groningen, The Netherlands
Email: [email protected]

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Citation

Jeroen J de Vries, Maria João da Costa Caiado, Wilfred F A den Dunnen.From genes to neuropathology: Integrative perspectives on the spectrum of spinocerebellar ataxias. Clin Neuropathol. 2026; 46: 86-97. doi: 10.5414/NP301726. Pubmed: https://pubmed.ncbi.nlm.nih.gov/42290274/; PMID: 42290274.

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